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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
ACBD3 - Acyl-CoA Binding Domain Containing 3
Alias:
PAP7
GCP60
GOCAP1
GOLPH1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
高尔基体复合体在从内质网输出的蛋白质的分类和修饰中起着关键作用。这个基因编码的蛋白质通过与整合膜蛋白giantin相互作用,参与高尔基体结构和功能的维持。它还可能参与类固醇形成的激素调节。[由RefSeq,2008年7月提供]
Related ID:
NCBI:64746
ENSEMBL:ENSG00000182827
HGNC:15453
UNIPROT:Q9H3P7
OMIM:606809
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64746
1
8
42063 bp
60.59
14
--
5
21
ACBD3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Acting
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Residues
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
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IF
No Data Found!
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